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congenital nongoitrous hypothyroidism 8
Summary
- Synonym
-
- CHNG8
- Definition
- A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2.
- Super Class
- autosomal dominant disease congenital hypothyroidism
External Links
- Disease Ontology
- DOID:0111837
- Mondo Disease Ontology
- OMIM
